A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14429897



Internal ID22171785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:107910838..107910838hg38UCSC Ensembl
chrX:107154068..107154068hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg38190
hg19190
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3537748
Supporting Variants
SamplesHG00514
Known GenesMID2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14429897
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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